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UnknownBiallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Not available
S-EPMC7447524 | biostudies-literature
UnknownSPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Not available
S-EPMC10319774 | biostudies-literature
UnknownVariants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Not available
S-EPMC8354857 | biostudies-literature
UnknownExpanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Not available
S-EPMC6323608 | biostudies-literature
UnknownProgressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
Not available
S-EPMC8222855 | biostudies-literature
UnknownBi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Not available
S-EPMC6408318 | biostudies-literature
UnknownClinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.
Not available
S-EPMC8664895 | biostudies-literature
UnknownDYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.
Not available
S-EPMC7767569 | biostudies-literature
UnknownDetection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.
Not available
S-EPMC8372083 | biostudies-literature
UnknownA description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.
Not available
S-EPMC8208045 | biostudies-literature
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